Canonical Allele Identifier: CA10589712

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266419
• ClinVar RCV Id: RCV000256943 ; RCV002222179
• dbSNP Id: rs886040177
• MyVariant Identifiers: chr17:g.41243598_41243601del (hg19) ; chr17:g.43091581_43091584del (hg38)
• PubMed: PMID:24549055

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091584_43091587del , CM000679.2:g.43091584_43091587del	GRCh38
NC_000017.10:g.41243601_41243604del , CM000679.1:g.41243601_41243604del	GRCh37
NC_000017.9:g.38497127_38497130del	NCBI36
NG_005905.2:g.126400_126403del , LRG_292:g.126400_126403del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4011_4014del
ENST00000461574.2:c.3947_3950del	ENSP00000417241.2:p.Phe1316Ter
ENST00000470026.6:c.3947_3950del	ENSP00000419274.2:p.Phe1316Ter
ENST00000473961.6:c.3821_3824del	ENSP00000420201.2:p.Phe1274Ter
ENST00000476777.6:c.3944_3947del	ENSP00000417554.2:p.Phe1315Ter
ENST00000477152.6:c.3869_3872del	ENSP00000419988.2:p.Phe1290Ter
ENST00000478531.6:c.785-552_785-549del	ENSP00000420412.2:n.785-552_785-549del
ENST00000489037.2:c.3869_3872del	ENSP00000420781.2:p.Phe1290Ter
ENST00000493919.6:c.647-552_647-549del	ENSP00000418819.2:n.647-552_647-549del
ENST00000494123.6:c.3947_3950del	ENSP00000419103.2:p.Phe1316Ter
ENST00000497488.2:c.3059_3062del	ENSP00000418986.2:p.Phe1020Ter
ENST00000618469.2:c.3947_3950del	ENSP00000478114.2:p.Phe1316Ter
ENST00000634433.2:c.3824_3827del	ENSP00000489431.2:p.Phe1275Ter
ENST00000644379.2:c.3947_3950del	ENSP00000496570.2:p.Phe1316Ter
ENST00000644555.2:c.647-552_647-549del	ENSP00000494614.2:n.647-552_647-549del
ENST00000652672.2:c.3806_3809del	ENSP00000498906.2:p.Phe1269Ter
ENST00000484087.6:c.665-552_665-549del	ENSP00000419481.2:n.665-552_665-549del
ENST00000700182.1:c.707-552_707-549del	ENSP00000514849.1:n.707-552_707-549del
ENST00000357654.9:c.3947_3950del MANE Select	ENSP00000350283.3:p.Phe1316Ter
ENST00000471181.7:c.3947_3950del	ENSP00000418960.2:p.Phe1316Ter
ENST00000644379.1:c.268_271del
ENST00000352993.7:c.671-552_671-549del	ENSP00000312236.5:n.671-552_671-549del
ENST00000354071.7:c.3947_3950del	ENSP00000326002.7:p.Phe1316Ter
ENST00000357654.7:c.3947_3950del	ENSP00000350283.3:p.Phe1316Ter
ENST00000461221.5:c.*3730_*3733del	ENSP00000418548.1:n.*3730_*3733del
ENST00000461574.1:c.241_244del
ENST00000468300.5:c.788-552_788-549del	ENSP00000417148.1:n.788-552_788-549del
ENST00000471181.6:c.3947_3950del	ENSP00000418960.2:p.Phe1316Ter
ENST00000478531.5:c.785-552_785-549del	ENSP00000420412.1:n.785-552_785-549del
ENST00000484087.5:c.410-552_410-549del	ENSP00000419481.1:n.410-552_410-549del
ENST00000487825.5:c.413-552_413-549del	ENSP00000418212.1:n.413-552_413-549del
ENST00000491747.6:c.788-552_788-549del	ENSP00000420705.2:n.788-552_788-549del
ENST00000493795.5:c.3806_3809del	ENSP00000418775.1:p.Phe1269Ter
ENST00000493919.5:c.647-552_647-549del	ENSP00000418819.1:n.647-552_647-549del
ENST00000586385.5:c.5-27633_5-27630del	ENSP00000465818.1:n.5-27633_5-27630del
ENST00000591534.5:c.-43-17063_-43-17060del	ENSP00000467329.1:n.-43-17063_-43-17060de...
ENST00000591849.5:c.-99+33687_-99+33690del	ENSP00000465347.1:n.-99+33687_-99+33690de...
NM_007294.3:c.3947_3950del , LRG_292t1:c.3947_3950del	NP_009225.1:p.Phe1316Ter
NM_007297.3:c.3806_3809del	NP_009228.2:p.Phe1269Ter
NM_007298.3:c.788-552_788-549del	NP_009229.2:n.788-552_788-549del
NM_007299.3:c.788-552_788-549del	NP_009230.2:n.788-552_788-549del
NM_007300.3:c.3947_3950del	NP_009231.2:p.Phe1316Ter
NR_027676.1:n.4083_4086del
NM_007294.4:c.3947_3950del MANE Select	NP_009225.1:p.Phe1316Ter
NM_007297.4:c.3806_3809del	NP_009228.2:p.Phe1269Ter
NM_007299.4:c.788-552_788-549del	NP_009230.2:n.788-552_788-549del
NM_007300.4:c.3947_3950del	NP_009231.2:p.Phe1316Ter
NR_027676.2:n.4124_4127del